Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:H2-T24'

26185

Institutional Source

Beutler Lab

Gene Symbol

H2-T24

Ensembl Gene

ENSMUSG00000053835

Gene Name

histocompatibility 2, T region locus 24

Synonyms

H-2T24

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36316587-36331452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36325772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 273 (V273A)

Ref Sequence

ENSEMBL: ENSMUSP00000109389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113760] [ENSMUST00000174063]

AlphaFold

F8VQG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113760
AA Change: V273A

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109389
Gene: ENSMUSG00000053835
AA Change: V273A

Domain	Start	End	E-Value	Type
Pfam:MHC_I	18	204	3.2e-46	PFAM
IGc1	223	294	2.61e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173900

Predicted Effect

probably benign
Transcript: ENSMUST00000174063

SMART Domains

Protein: ENSMUSP00000133476
Gene: ENSMUSG00000053835

Domain	Start	End	E-Value	Type
Pfam:MHC_I	18	114	1.3e-23	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	probably damaging	Het

Other mutations in H2-T24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:H2-T24	APN	17	36,328,128 (GRCm39)	splice site	probably benign
IGL02268:H2-T24	APN	17	36,328,264 (GRCm39)	missense	probably damaging	1.00
IGL02620:H2-T24	APN	17	36,328,183 (GRCm39)	missense	probably damaging	1.00
IGL03192:H2-T24	APN	17	36,326,368 (GRCm39)	nonsense	probably null
IGL03387:H2-T24	APN	17	36,317,671 (GRCm39)	missense	unknown
R0131:H2-T24	UTSW	17	36,325,878 (GRCm39)	missense	probably damaging	0.98
R0131:H2-T24	UTSW	17	36,325,878 (GRCm39)	missense	probably damaging	0.98
R0132:H2-T24	UTSW	17	36,325,878 (GRCm39)	missense	probably damaging	0.98
R0531:H2-T24	UTSW	17	36,326,463 (GRCm39)	missense	probably benign
R0678:H2-T24	UTSW	17	36,328,333 (GRCm39)	missense	probably damaging	1.00
R1161:H2-T24	UTSW	17	36,325,888 (GRCm39)	nonsense	probably null
R1310:H2-T24	UTSW	17	36,325,888 (GRCm39)	nonsense	probably null
R1726:H2-T24	UTSW	17	36,326,513 (GRCm39)	missense	probably benign	0.01
R3891:H2-T24	UTSW	17	36,326,330 (GRCm39)	missense	possibly damaging	0.59
R3948:H2-T24	UTSW	17	36,328,264 (GRCm39)	missense	probably damaging	1.00
R4106:H2-T24	UTSW	17	36,328,370 (GRCm39)	missense	possibly damaging	0.65
R4182:H2-T24	UTSW	17	36,326,376 (GRCm39)	missense	possibly damaging	0.81
R4229:H2-T24	UTSW	17	36,325,721 (GRCm39)	missense	probably benign	0.06
R5220:H2-T24	UTSW	17	36,325,562 (GRCm39)	missense	probably benign	0.12
R6257:H2-T24	UTSW	17	36,325,574 (GRCm39)	missense	probably benign	0.01
R7081:H2-T24	UTSW	17	36,328,344 (GRCm39)	missense	probably damaging	0.97
R7543:H2-T24	UTSW	17	36,325,743 (GRCm39)	missense	possibly damaging	0.70
R7739:H2-T24	UTSW	17	36,325,483 (GRCm39)	missense	probably benign	0.33
R8323:H2-T24	UTSW	17	36,328,431 (GRCm39)	critical splice acceptor site	probably null
R8358:H2-T24	UTSW	17	36,328,229 (GRCm39)	missense	probably benign	0.32
R9231:H2-T24	UTSW	17	36,331,363 (GRCm39)	missense	possibly damaging	0.72
R9275:H2-T24	UTSW	17	36,328,276 (GRCm39)	missense	probably damaging	0.96
R9594:H2-T24	UTSW	17	36,326,455 (GRCm39)	missense	probably damaging	0.99
R9706:H2-T24	UTSW	17	36,325,735 (GRCm39)	missense	probably benign	0.32
V8831:H2-T24	UTSW	17	36,328,216 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTAGCGGGTAAGTCCAAACACAAG -3'
(R):5'- AGAAAACGTCACCCTGAGGTGC -3'

Sequencing Primer
(F):5'- GCTTGAGGACTACAGCTTCC -3'
(R):5'- TGACCTGGCAGTTGAATGGA -3'

Posted On

2013-04-16